• Gene id: 1175

Gene Summary

• Gene Symbol: AP2S1   Gene   UCSC   Ensembl
• Aliases: AP17, CLAPS2, FBH3, FBHOk, HHC3
• Gene name: adaptor related protein complex 2 subunit sigma 1
• Alternate names: AP-2 complex subunit sigma, HA2 17 kDa subunit, adaptor protein complex AP-2 subunit sigma, adaptor related protein complex 2 sigma 1 subunit, clathrin assembly protein 2 sigma small chain, clathrin coat assembly protein AP17, clathrin coat-associated protein A,
• Gene location: 19q13.32 (46850845: 46838135)     Exons: 7     NC_000019.10
• Gene summary(Entrez): One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this comp
• OMIM: 602242

Protein Summary

• Protein general information: P53680  
  • Name: AP 2 complex subunit sigma (Adaptor protein complex AP 2 subunit sigma) (Adaptor related protein complex 2 subunit sigma) (Clathrin assembly protein 2 sigma small chain) (Clathrin coat assembly protein AP17) (Clathrin coat associated protein AP17) (HA2 17
  • Length: 142  
  • Mass: 17018
• Sequence:

  MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVND
  NNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE

• Structural information:
  • Interpro: IPR016635  IPR022775  IPR027156  IPR000804  IPR011012  
  • Prosite: PS00989
  • STRING: ENSP00000263270
• Other Databases: GeneCards:  AP2S1  Malacards:  AP2S1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045334	clathrin-coated endocytic vesicle	NAS	cellular component
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0035615	clathrin adaptor activity	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0072583	clathrin-dependent endocytosis	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0034383	low-density lipoprotein particle clearance	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0036020	endolysosome membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035615	clathrin adaptor activity	TAS	contributes to
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0072583	clathrin-dependent endocytosis	TAS	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030100	regulation of endocytosis	TAS	biological process
GO:0030122	AP-2 adaptor complex	TAS	cellular component
GO:0048268	clathrin coat assembly	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa04721	Synaptic vesicle cycle
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Familial hypocalciuric hypercalcemia	KEGG:H02026
Familial hypocalciuric hypercalcemia	KEGG:H02026
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq